Fanconi anaemia: New strategies

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Fanconi anaemia (FA) is a rare genetic disease characterized by chromosomal instability, somatic abnormalities, marrow failure and cancer proness. The main cause of morbidity and mortality is bone marrow failure, which typically arises in the first decade of life and progresses to full-blown transfusion dependence and severe neutropenia in a variable number of years. Myelodysplastic syndrome (MDS) and AML may arise on the background of marrow failure, although cases of patients diagnosed with MDS or overt leukaemia before the full appearance of marrow aplasia are reported. This article reviews the current options for treatment of bone marrow failure in FA and provides an algorithm for supporting decisions on treatment. The use of androgens, corticosteroids and growth factors is reviewed, as well as the results in recent cohorts of matched sibling donor haematopoietic stem cell (HSC) transplants and unrelated donor HSC transplants, including cord blood graft. The conditioning regimens used are analysed and commented. Up-to-date information on second tumours after HSC transplant and on experimental treatments such as gene therapy, prenatal and preimplantation diagnosis and inhibition of pro-inflammatory cytokines is provided.

Original languageEnglish
JournalBone Marrow Transplantation
Volume41
Issue numberSUPPL. 2
DOIs
Publication statusPublished - Jun 2008

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Fanconi Anemia
Bone Marrow
Hematopoietic Stem Cells
Transplants
Myelodysplastic Syndromes
Tissue Donors
Preimplantation Diagnosis
Unrelated Donors
Chromosomal Instability
Inborn Genetic Diseases
Rare Diseases
Neutropenia
Prenatal Diagnosis
Fetal Blood
Genetic Therapy
Androgens
Siblings
Neoplasms
Intercellular Signaling Peptides and Proteins
Adrenal Cortex Hormones

ASJC Scopus subject areas

  • Hematology
  • Transplantation

Cite this

Fanconi anaemia : New strategies. / Dufour, C.; Svahn, J.

In: Bone Marrow Transplantation, Vol. 41, No. SUPPL. 2, 06.2008.

Research output: Contribution to journalArticle

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